Previous GeneCards Identifiers for DES Gene

Summaries for DES Gene

Entrez Gene Summary for DES Gene

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

UniProtKB/Swiss-Prot for DES Gene

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction.

Molecular function for DES Gene

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction.

Publications for DES Gene

A dysfunctional desmin mutation in a patient with severe generalized myopathy.(PMID: 9736733)Muñoz-Mármol AM … Fuchs E(Proceedings of the National Academy of Sciences of the United States of America 1998)2342260

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.(PMID: 19879535)van Tintelen JP … van den Berg MP(Heart rhythm 2009)342260

Desmin mutations in a St. Petersburg cohort of cardiomyopathies.(PMID: 17626518)Kostareva A … Sejersen T(Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2006)3224560